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BRCA2 and BRCA2 (/ ˌ b r æ k ə ˈ t uː / [5]) are human genes and their protein products, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2 ; currently BRCA2, DNA repair associated ) are maintained by the HUGO Gene Nomenclature Committee .
Inheriting one BRCA1 mutation and one BRCA2 mutation has been reported occasionally; the child's risk for any given type of cancer is the higher risk of the two genes (e.g., the ovarian cancer risk from BRCA1 and the pancreatic cancer risk from BRCA2). Inheriting two BRCA2 mutations produces Fanconi anemia. [9]: 82–85
Approximately 1 in 40 Ashkenazi Jewish people carry BRCA1 or BRCA2 mutations; it's about 1 in 400 people in the general population. Brystowski, of Oak Park, Michigan, wasn't about to let her ...
People with BRCA1 and BRCA2 mutations are recommended to have a transvaginal ultrasound 1-2 times per year. Screening with CA-125 is also recommended.. Prophylactic salpingo-oophorectomy (removal of the ovaries and fallopian tubes to prevent cancer) is recommended at age 35-40 for people with BRCA1 mutations and at age 40-45 for people with BRCA2 mutations. [6]
BRCA1 and BRCA2 play crucial roles in maintaining genome integrity, mainly through homologous recombination (HR) for DNA double-strand breaks (DSB)repair. The mutations of BRCA1 and BRCA2 can lead to a reduced capacity of HR machinery, increased genomic instability, and elicit a predisposition to malignancies. [2]
The major genetic risk factor for ovarian cancer is a mutation in BRCA1 or BRCA2 genes, or in DNA mismatch repair genes, which is present in 10% of ovarian cancer cases. Only one allele needs to be mutated to place a person at high risk.
The genes BRCA1 and BRCA2 show loss of heterozygosity in samplings of tumors from patients who have germline mutations. [citation needed] BRCA1/2 are genes that produce proteins which regulate the DNA repair pathway by binding to Rad51. [citation needed]
Between 2007 and 2011, Metcalfe received funding to help researchers understand the differences in uptake of cancer prevention options in Canadian women with a BRCA1 or BRCA2 mutation. [4] Through this, Metcalfe became the first to investigate the predictors of contralateral breast cancer in women with a BRCA1 or BRCA2 mutations. [5]